{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:11:41Z","timestamp":1780553501250,"version":"3.54.1"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T00:00:00Z","timestamp":1732060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta (OI) constitutes a family of bone fragility disorders characterized by both genetic and clinical heterogeneity. Several different mouse models reproduce the classic features of OI, and the most commonly studied carry either a spontaneous or genetically induced pathogenic variant in the Col1a1 or Col1a2 gene. When OI is caused by primary alterations of type I collagen, it represents a systemic connective tissue disease that, in addition to the skeleton, also affects several extra-skeletal tissues and organs, such as skin, teeth, lung, heart, and others, where the altered type I collagen is also expressed. Currently, existing mouse models harbor a disease-causing genetic variant in all tissues and do not allow assessing the primary vs secondary consequences of the mutation on a specific organ\/system. Here, we describe the generation of the first conditional knock-in allele for Col1a1 that can express a severe OI-causing glycine substitution (p.Gly1146Arg) in the triple helical region of \u03b11(I) but only after Cre-driven recombination in the tissue of choice. We called this new dominant allele Col1a1G1146R-Floxed\/+ and introduced it into the murine model. We describe its validation by crossing mice carrying this allele with EIIA-Cre expressing mice and showing that offspring with the recombined allele reproduce the classic features of a severe form of OI. The new mouse model will be useful to study the tissue-specific impact of this severe mutation on organs, such as the lung, the heart, and others.<\/jats:p>","DOI":"10.1093\/jbmr\/zjae189","type":"journal-article","created":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T22:02:02Z","timestamp":1732140122000},"page":"114-124","source":"Crossref","is-referenced-by-count":3,"title":["A new <i>Col1a1<\/i> conditional knock-in mouse model to study osteogenesis imperfecta"],"prefix":"10.1093","volume":"40","author":[{"given":"Milena","family":"Dimori","sequence":"first","affiliation":[{"name":"Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahtab","family":"Toulany","sequence":"additional","affiliation":[{"name":"Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lira Samia","family":"Sultana","sequence":"additional","affiliation":[{"name":"Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melda","family":"Onal","sequence":"additional","affiliation":[{"name":"Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff D","family":"Thostenson","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John L","family":"Carroll","sequence":"additional","affiliation":[{"name":"Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]},{"name":"Department of Pediatrics, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"Center for Osteoporosis and Metabolic Bone Diseases, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]},{"name":"Department of Orthopaedic Surgery, University of Arkansas for Medical Sciences , Little Rock, AR 72205 ,","place":["United States"]},{"name":"Central Arkansas Veterans Healthcare System , Little Rock, AR 72205 ,","place":["United 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